BLOC1S1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	BLOC1S1
Entrez Gene ID	2647
Full Name	biogenesis of lysosomal organelles complex 1 subunit 1
Synonyms	BLOS1,BORCS1,GCN5L1,MICoA,RT14
General protein information	Preferred Names biogenesis of lysosomal organelles complex 1 subunit 1 Names biogenesis of lysosome-related organelles complex 1 subunit 1 BLOC-1 subunit 1 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1 GCN5 general control of amino-acid synthesis 5-like 1 GCN5-like protein 1 MTA1-interacting coactivator
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 12 Map Location: 12q13.2
Summary	BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008].
Disorder MIM:	601444

mRNA and Protein(s)

mRNA	Protein	Name
NM_001487.3	NP_001478.2	biogenesis of lysosome-related organelles complex 1 subunit 1

Pathways from BioSystems

Homologies

Mus musculus (house mouse)	Bloc1s1	NP_056555.2
Xenopus tropicalis (tropical clawed frog)	bloc1s1	NP_001072249.1
Danio rerio (zebrafish)	LOC556597	NP_001037815.1
Drosophila melanogaster (fruit fly)	blos1	NP_725401.2
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP001887	XP_321175.4
	BLOC1S1	XP_001095809.2
Homo sapiens (human)	BLOC1S1	NP_001478.2
Pan troglodytes (chimpanzee)	BLOC1S1	XP_509120.1
Bos taurus (cattle)	BLOC1S1	NP_001069830.1
Rattus norvegicus (Norway rat)	Bloc1s1	NP_001099411.2
Caenorhabditis elegans (roundworm)	CELE_T20G5.10	NP_499262.1

Gene Ontology
Bibliography

Related articles in PubMed

Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress.
Bright MD, Itzhak DN, Wardell CP, Morgan GJ, Davies FE
Molecular and cellular biology35(12)2186-202(2015 Jun)

BORC, a multisubunit complex that regulates lysosome positioning.
Pu J, Schindler C, Jia R, Jarnik M, Backlund P, Bonifacino JS
Developmental cell33(2)176-88(2015 Apr)

The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type II?.
Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V
Molecular biology of the cell24(14)2269-84(2013 Jul)

Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma na?ve to therapy.
Pieragostino D, Agnifili L, Fasanella V, D'Aguanno S, Mastropasqua R, Di Ilio C, Sacchetta P, Urbani A, Del Boccio P
Molecular bioSystems9(6)1108-16(2013 Jun)

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W
Traffic (Copenhagen, Denmark)13(8)1160-9(2012 Aug)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Using cancer cell lines, the study shows that BLOC1S1 mRNA is specifically cleaved by IRE1 at guanine 444, but only under conditions of IRE1 hyperactivation.
Title: Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress.

The mitochondrial acetylation status controlled by Sirt3 and its proposed opponent GCN5L1 is an important regulator of the metabolic adaptation of mitochondrial translation.
Title: Mitochondrial protein acetylation mediates nutrient sensing of mitochondrial protein synthesis and mitonuclear protein balance.

The Hermansky-Pudlak syndrome complex BLOC-1 and its cargo PI4KIIalpha interact with regulators of the actin cytoskeleton.
Title: The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type II?.

BLOS1 interacts with KXD1.
Title: The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Quantitative proteomic studies expand the functional repertoire of the BLOC-1 complex and provide insight into putative molecular pathways of schizophrenia susceptibility.
Title: Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.

The following BLOC1S1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BLOC1S1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu55971	NM_001487.3 Latest version!	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 1 (BLOC1S1), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

BLOC1S1 ( NM_001487.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_001478.2 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 1 (BLOC1S1), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu55971
Clone ID Related Accession (Same CDS sequence)	NM_001487.3
Accession Version	NM_001487.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 462bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-07-06
Organism	Homo sapiens(human)
Product	biogenesis of lysosome-related organelles complex 1 subunit 1
Comment	Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA864590.1, BC130640.1, D64007.1 and AI673441.1. On Dec 16, 2010 this sequence version replaced NM_001487.2. Transcript Variant: This variant (1) encodes the supported protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.421832.1, CB111354.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCCCCGG GGAGCCGAGG TGAGCGTTCC AGCTTCCGGA GCCGGAGGGG GCCCGGCGTA 
CCCAGCCCCC AGCCCGACGT GACCATGCTG TCCCGCCTCC TAAAAGAACA CCAGGCCAAG 
CAGAATGAAC GCAAGGAGCT GCAGGAAAAG AGGAGGCGAG AGGCTATCAC TGCAGCGACC 
TGCCTGACAG AAGCTTTGGT GGATCACCTC AATGTGGGTG TGGCCCAGGC CTACATGAAC 
CAGAGAAAGC TGGACCATGA GGTGAAGACC CTACAGGTCC AGGCTGCCCA ATTTGCCAAG 
CAGACAGGCC AGTGGATCGG AATGGTGGAG AACTTCAACC AGGCACTCAA GGAAATTGGG 
GATGTGGAGA ACTGGGCTCG GAGCATCGAG CTGGACATGC GCACCATTGC CACTGCACTG 
GAATATGTCT ACAAAGGGCA GCTGCAGTCT GCCCCTTCCT AG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001478.2
CDS	19..480
Translation	MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIGDVENWARSIELDMRTIATALEYVYKGQLQSAPS

Target ORF information:

RefSeq Version	NM_001487.3
Organism	Homo sapiens(human)
Definition	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 1 (BLOC1S1), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001487.3

ORF Insert Sequence:

ATGGCCCCGG GGAGCCGAGG TGAGCGTTCC AGCTTCCGGA GCCGGAGGGG GCCCGGCGTA 
CCCAGCCCCC AGCCCGACGT GACCATGCTG TCCCGCCTCC TAAAAGAACA CCAGGCCAAG 
CAGAATGAAC GCAAGGAGCT GCAGGAAAAG AGGAGGCGAG AGGCTATCAC TGCAGCGACC 
TGCCTGACAG AAGCTTTGGT GGATCACCTC AATGTGGGTG TGGCCCAGGC CTACATGAAC 
CAGAGAAAGC TGGACCATGA GGTGAAGACC CTACAGGTCC AGGCTGCCCA ATTTGCCAAG 
CAGACAGGCC AGTGGATCGG AATGGTGGAG AACTTCAACC AGGCACTCAA GGAAATTGGG 
GATGTGGAGA ACTGGGCTCG GAGCATCGAG CTGGACATGC GCACCATTGC CACTGCACTG 
GAATATGTCT ACAAAGGGCA GCTGCAGTCT GCCCCTTCCT AG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress.
Molecular and cellular biology35(12)2186-202(2015 Jun)
Bright MD,Itzhak DN,Wardell CP,Morgan GJ,Davies FE

BORC, a multisubunit complex that regulates lysosome positioning.
Developmental cell33(2)176-88(2015 Apr)
Pu J,Schindler C,Jia R,Jarnik M,Backlund P,Bonifacino JS

The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type II?.
Molecular biology of the cell24(14)2269-84(2013 Jul)
Ryder PV,Vistein R,Gokhale A,Seaman MN,Puthenveedu MA,Faundez V

Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma na?ve to therapy.
Molecular bioSystems9(6)1108-16(2013 Jun)
Pieragostino D,Agnifili L,Fasanella V,D'Aguanno S,Mastropasqua R,Di Ilio C,Sacchetta P,Urbani A,Del Boccio P

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
Traffic (Copenhagen, Denmark)13(8)1160-9(2012 Aug)
Yang Q,He X,Yang L,Zhou Z,Cullinane AR,Wei A,Zhang Z,Hao Z,Zhang A,He M,Feng Y,Gao X,Gahl WA,Huizing M,Li W

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BLOC1S1 cDNA ORF clone, Homo sapiens(human)

Gene

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Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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